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微阵列技术检测Wolf-Hirschhorn综合征1例报告 被引量:1

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摘要 患儿女,8月龄,因精神运动发育迟缓7个月就诊。患儿系第1胎第1产,胎龄37+3周,因孕母产检时发现"胎儿多发畸形,宫内发育迟缓,臀位妊娠"行剖宫产出生,出生体重为1.9kg。因"小于胎龄儿"在我院新生儿科住院治疗,行宫内致畸四项、遗传代谢病氨基酸和酰基肉碱谱及尿液有机酸综合分析等代谢相关检查、染色体检查均未见明显异常。
出处 《中国当代儿科杂志》 CAS CSCD 北大核心 2014年第12期1277-1278,共2页 Chinese Journal of Contemporary Pediatrics
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  • 1Shannon NL, Maltby EL, Rigby AS, et al. An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality [J]. J Med Genet, 2001, 38(10): 674-679.
  • 2Zollino M, Lecce R, Fischetto R, et al. Mapping the Wolf- Hirschhorn syndrome phenotype outside the currently accented WHS critical region and defining a new critical region, WHSCR-2[J]. Am J Human Genet, 2003, 72(3): 590-597.
  • 3Wilson MG, Towner JW, Negus LD, et al. Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome no.4[J]. J Med Genet, 1970, 7:164-167.
  • 4Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision[J]. Am J Med Genet, Part C, 2008, 148(4): 246-251.
  • 5Verbrugge J, Choudhary AK, Ladda R. Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf- Hirschhorn syndrome. Report of two cases and review of the literature[J]. Am J Med Genet, Part A. 2009, 149A(10): 2280- 2284.
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  • 7朱春江,黄志云,吴维青,赵芹,蒋海艳,谢建生.运用多重连接探针扩增和微阵列-比较基因杂交芯片技术诊断父源性Wolf-Hirschhorn综合征一家系[J].中华儿科杂志,2012,50(6):460-464. 被引量:7

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